X-linked myotubular myopathy: a clinical report and a review of the mild phenotype
CONCLUSION: The presentation of a mild form of this myotubular myopathy, being less commonly reported, added challenge to the diagnosis. The combination of mild hypotonia, feeding difficulties and expressive language disorder should raise suspicion of a neuromuscular disease. There is a lack of verified motor or developmental scores specific to this myopathy to further determine prognosis and need of other therapies. While currently the severity myotubular myopathy is classified according to ventilator dependency, this may be insufficient and unapplicable to milder cases. There is an evident need for a grading system for m...
Source: Revista de Neurologia - March 28, 2023 Category: Neurology Authors: R Barreto-Mota J Figueirinha R Quental J Fonseca C Melo M Sampaio R Sousa Source Type: research

X-linked myotubular myopathy: a clinical report and a review of the mild phenotype
CONCLUSION: The presentation of a mild form of this myotubular myopathy, being less commonly reported, added challenge to the diagnosis. The combination of mild hypotonia, feeding difficulties and expressive language disorder should raise suspicion of a neuromuscular disease. There is a lack of verified motor or developmental scores specific to this myopathy to further determine prognosis and need of other therapies. While currently the severity myotubular myopathy is classified according to ventilator dependency, this may be insufficient and unapplicable to milder cases. There is an evident need for a grading system for m...
Source: Revista de Neurologia - March 28, 2023 Category: Neurology Authors: R Barreto-Mota J Figueirinha R Quental J Fonseca C Melo M Sampaio R Sousa Source Type: research

X-linked myotubular myopathy: a clinical report and a review of the mild phenotype
CONCLUSION: The presentation of a mild form of this myotubular myopathy, being less commonly reported, added challenge to the diagnosis. The combination of mild hypotonia, feeding difficulties and expressive language disorder should raise suspicion of a neuromuscular disease. There is a lack of verified motor or developmental scores specific to this myopathy to further determine prognosis and need of other therapies. While currently the severity myotubular myopathy is classified according to ventilator dependency, this may be insufficient and unapplicable to milder cases. There is an evident need for a grading system for m...
Source: Revista de Neurologia - March 28, 2023 Category: Neurology Authors: R Barreto-Mota J Figueirinha R Quental J Fonseca C Melo M Sampaio R Sousa Source Type: research

X-linked myotubular myopathy: a clinical report and a review of the mild phenotype
CONCLUSION: The presentation of a mild form of this myotubular myopathy, being less commonly reported, added challenge to the diagnosis. The combination of mild hypotonia, feeding difficulties and expressive language disorder should raise suspicion of a neuromuscular disease. There is a lack of verified motor or developmental scores specific to this myopathy to further determine prognosis and need of other therapies. While currently the severity myotubular myopathy is classified according to ventilator dependency, this may be insufficient and unapplicable to milder cases. There is an evident need for a grading system for m...
Source: Revista de Neurologia - March 28, 2023 Category: Neurology Authors: R Barreto-Mota J Figueirinha R Quental J Fonseca C Melo M Sampaio R Sousa Source Type: research

X-linked myotubular myopathy: a clinical report and a review of the mild phenotype
CONCLUSION: The presentation of a mild form of this myotubular myopathy, being less commonly reported, added challenge to the diagnosis. The combination of mild hypotonia, feeding difficulties and expressive language disorder should raise suspicion of a neuromuscular disease. There is a lack of verified motor or developmental scores specific to this myopathy to further determine prognosis and need of other therapies. While currently the severity myotubular myopathy is classified according to ventilator dependency, this may be insufficient and unapplicable to milder cases. There is an evident need for a grading system for m...
Source: Revista de Neurologia - March 28, 2023 Category: Neurology Authors: R Barreto-Mota J Figueirinha R Quental J Fonseca C Melo M Sampaio R Sousa Source Type: research

X-linked myotubular myopathy: a clinical report and a review of the mild phenotype
CONCLUSION: The presentation of a mild form of this myotubular myopathy, being less commonly reported, added challenge to the diagnosis. The combination of mild hypotonia, feeding difficulties and expressive language disorder should raise suspicion of a neuromuscular disease. There is a lack of verified motor or developmental scores specific to this myopathy to further determine prognosis and need of other therapies. While currently the severity myotubular myopathy is classified according to ventilator dependency, this may be insufficient and unapplicable to milder cases. There is an evident need for a grading system for m...
Source: Revista de Neurologia - March 28, 2023 Category: Neurology Authors: R Barreto-Mota J Figueirinha R Quental J Fonseca C Melo M Sampaio R Sousa Source Type: research

X-linked myotubular myopathy: a clinical report and a review of the mild phenotype
CONCLUSION: The presentation of a mild form of this myotubular myopathy, being less commonly reported, added challenge to the diagnosis. The combination of mild hypotonia, feeding difficulties and expressive language disorder should raise suspicion of a neuromuscular disease. There is a lack of verified motor or developmental scores specific to this myopathy to further determine prognosis and need of other therapies. While currently the severity myotubular myopathy is classified according to ventilator dependency, this may be insufficient and unapplicable to milder cases. There is an evident need for a grading system for m...
Source: Revista de Neurologia - March 28, 2023 Category: Neurology Authors: R Barreto-Mota J Figueirinha R Quental J Fonseca C Melo M Sampaio R Sousa Source Type: research

Cross-modal modulation gates nociceptive inputs in Drosophila
In this study, we report a unique system for studying cross-modal modulation by taking advantage of the genetic resources in Drosophila. We show that gentle mechanical stimuli inhibit nociceptive responses in Drosophila larvae. Low-threshold mechanosensory neurons inhibit a key second-order neuron in the nociceptive pathway through metabotropic GABA receptors on nociceptor synaptic terminals. Strikingly, this cross-modal inhibition is only effective when nociceptor inputs are weak, thus serving as a gating mechanism for filtering out weak nociceptive inputs. Our findings unveil a novel cross-modal gating mechanism for sens...
Source: Current Biology - March 9, 2023 Category: Biology Authors: Geng Pan Ruonan Li Guozhong Xu Shijun Weng Xiong-Li Yang Limin Yang Bing Ye Source Type: research

Cross-modal modulation gates nociceptive inputs in Drosophila
In this study, we report a unique system for studying cross-modal modulation by taking advantage of the genetic resources in Drosophila. We show that gentle mechanical stimuli inhibit nociceptive responses in Drosophila larvae. Low-threshold mechanosensory neurons inhibit a key second-order neuron in the nociceptive pathway through metabotropic GABA receptors on nociceptor synaptic terminals. Strikingly, this cross-modal inhibition is only effective when nociceptor inputs are weak, thus serving as a gating mechanism for filtering out weak nociceptive inputs. Our findings unveil a novel cross-modal gating mechanism for sens...
Source: Current Biology - March 9, 2023 Category: Biology Authors: Geng Pan Ruonan Li Guozhong Xu Shijun Weng Xiong-Li Yang Limin Yang Bing Ye Source Type: research

Migraine in the context of chronic primary pain, chronic overlapping pain disorders, and functional somatic disorders: A narrative review
CONCLUSIONS: Migraine and also other primary headache disorders should be seen as particular phenotypes within a broader spectrum of symptom perception and processing disorders that require integrative diagnostics and treatment. A harmonization of classifications and better interdisciplinary collaboration are desirable.PMID:36373821 | DOI:10.1111/head.14419 (Source: Headache)
Source: Headache - November 14, 2022 Category: Neurology Authors: Peter Henningsen Constanze Hausteiner-Wiehle Winfried H äuser Source Type: research

Migraine in the context of chronic primary pain, chronic overlapping pain disorders, and functional somatic disorders: A narrative review
CONCLUSIONS: Migraine and also other primary headache disorders should be seen as particular phenotypes within a broader spectrum of symptom perception and processing disorders that require integrative diagnostics and treatment. A harmonization of classifications and better interdisciplinary collaboration are desirable.PMID:36373821 | DOI:10.1111/head.14419 (Source: Headache)
Source: Headache - November 14, 2022 Category: Neurology Authors: Peter Henningsen Constanze Hausteiner-Wiehle Winfried H äuser Source Type: research

Migraine in the context of chronic primary pain, chronic overlapping pain disorders, and functional somatic disorders: A narrative review
CONCLUSIONS: Migraine and also other primary headache disorders should be seen as particular phenotypes within a broader spectrum of symptom perception and processing disorders that require integrative diagnostics and treatment. A harmonization of classifications and better interdisciplinary collaboration are desirable.PMID:36373821 | DOI:10.1111/head.14419 (Source: Headache)
Source: Headache - November 14, 2022 Category: Neurology Authors: Peter Henningsen Constanze Hausteiner-Wiehle Winfried H äuser Source Type: research

Migraine in the context of chronic primary pain, chronic overlapping pain disorders, and functional somatic disorders: A narrative review
CONCLUSIONS: Migraine and also other primary headache disorders should be seen as particular phenotypes within a broader spectrum of symptom perception and processing disorders that require integrative diagnostics and treatment. A harmonization of classifications and better interdisciplinary collaboration are desirable.PMID:36373821 | DOI:10.1111/head.14419 (Source: Headache)
Source: Headache - November 14, 2022 Category: Neurology Authors: Peter Henningsen Constanze Hausteiner-Wiehle Winfried H äuser Source Type: research

Migraine in the context of chronic primary pain, chronic overlapping pain disorders, and functional somatic disorders: A narrative review
CONCLUSIONS: Migraine and also other primary headache disorders should be seen as particular phenotypes within a broader spectrum of symptom perception and processing disorders that require integrative diagnostics and treatment. A harmonization of classifications and better interdisciplinary collaboration are desirable.PMID:36373821 | DOI:10.1111/head.14419 (Source: Headache)
Source: Headache - November 14, 2022 Category: Neurology Authors: Peter Henningsen Constanze Hausteiner-Wiehle Winfried H äuser Source Type: research

Migraine in the context of chronic primary pain, chronic overlapping pain disorders, and functional somatic disorders: A narrative review
CONCLUSIONS: Migraine and also other primary headache disorders should be seen as particular phenotypes within a broader spectrum of symptom perception and processing disorders that require integrative diagnostics and treatment. A harmonization of classifications and better interdisciplinary collaboration are desirable.PMID:36373821 | DOI:10.1111/head.14419 (Source: Headache)
Source: Headache - November 14, 2022 Category: Neurology Authors: Peter Henningsen Constanze Hausteiner-Wiehle Winfried H äuser Source Type: research